A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.
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ABSTRACT:
SUBMITTER: Quintela I
PROVIDER: S-EPMC4498854 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Publications
A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.
Quintela Ines I Fernandez-Prieto Montse M Gomez-Guerrero Lorena L Resches Mariela M Eiris Jesus J Barros Francisco F Carracedo Angel A
Clinical case reports 20150409 6
We report on a male patient with severe autistic disorder, lack of oral language, and dysmorphic features who carries a rare interstitial microdeletion of 4.96 Mb at chromosome 6q14.1-q15. The patient also harbors a maternally inherited copy number gain of 1.69 Mb at chromosome Xp22.31, whose pathogenicity is under debate. ...[more]
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